Clinical Utility of Targeted Next-Generation Sequencing Assay to Detect Copy Number Variants Associated with Myelodysplastic Syndrome in Myeloid Malignancies
| العنوان: | Clinical Utility of Targeted Next-Generation Sequencing Assay to Detect Copy Number Variants Associated with Myelodysplastic Syndrome in Myeloid Malignancies |
|---|---|
| المؤلفون: | Sam Dougaparsad, Lori Long, Liqun Jiang, Aparna Pallavajjala, Victoria Stinnett, Candice Ament, Alexandra Finch, Jialing Huang, Laura Morsberger, Patty Long, Rebecca Parish, Kirstin Smith, Ying S. Zou, Azin Nozari, Lisa Haley, Rebecca Park, Alison Shane, Vamsi Parimi, Melanie Hardy, Christopher D. Gocke, Emily A. Adams |
| المصدر: | The Journal of molecular diagnostics : JMD. 23(4) |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | 0301 basic medicine, Myeloid, endocrine system diseases, DNA Copy Number Variations, Somatic cell, Concordance, Karyotype, Computational biology, Gene mutation, Biology, Sensitivity and Specificity, DNA sequencing, Pathology and Forensic Medicine, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Limit of Detection, hemic and lymphatic diseases, mental disorders, medicine, Humans, Copy-number variation, Alleles, In Situ Hybridization, Fluorescence, Myeloproliferative Disorders, medicine.diagnostic_test, Diagnostic Tests, Routine, High-Throughput Nucleotide Sequencing, Data Accuracy, Leukemia, Myeloid, Acute, 030104 developmental biology, medicine.anatomical_structure, DNA profiling, 030220 oncology & carcinogenesis, Myelodysplastic Syndromes, Mutation, Molecular Medicine, Feasibility Studies, Fluorescence in situ hybridization |
| الوصف: | Copy number variants (CNVs) and gene mutations are important for diagnosis and treatment of myeloid malignancies. In a routine clinical setting, somatic gene mutations are detected by targeted next-generation sequencing (NGS) assay, but CNVs are commonly detected by conventional chromosome analysis and fluorescence in situ hybridization (FISH). The aim of this proof-of-principle study was to investigate the feasibility of using targeted NGS to simultaneously detect both somatic mutations and CNVs. Herein, we sequenced 406 consecutive patients with myeloid malignancies by targeted NGS and performed a head-to-head comparison with the results from a myelodysplastic syndrome (MDS) FISH and conventional chromosome analysis to detect CNVs. Among 91 patients with abnormal MDS FISH results, the targeted NGS revealed all 120 CNVs detected by MDS FISH (including −5/5q−, −7/7q−, +8, and 20q−) and 193 extra CNVs detected by conventional chromosome analysis. The targeted NGS achieved 100% concordance with the MDS FISH. The lower limit of detection of MDS CNVs by the targeted NGS was generally 5% variant allele fraction for DNA, based on the lowest percentages of abnormal cells detected by MDS FISH in this study. This proof-of-principle study demonstrated that the targeted NGS assay can simultaneously detect both MDS CNVs and somatic mutations, which can provide a more comprehensive genetic profiling for patients with myeloid malignancies using a single assay in a clinical setting. |
| تدمد: | 1943-7811 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36da8ec5302787806a83e711c947ecf3Test https://pubmed.ncbi.nlm.nih.gov/33577993Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....36da8ec5302787806a83e711c947ecf3 |
| قاعدة البيانات: | OpenAIRE |
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